Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019393_6019394delinsCG , CM000674.2:g.6019393_6019394delinsCG | GRCh38 |
| NC_000012.11:g.6128559_6128560delinsCG , CM000674.1:g.6128559_6128560delinsCG | GRCh37 |
| NC_000012.10:g.5998820_5998821delinsCG | NCBI36 |
| NG_009072.1:g.110277_110278delinsCG | |
| NG_009072.2:g.110277_110278delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.4024_4025delinsCG MANE Select | NP_000543.3:p.Arg1342= |
| ENST00000261405.10:c.4024_4025delinsCG MANE Select | ENSP00000261405.5:p.Arg1342= |
| NM_000552.3:c.4024_4025delinsCG | NP_000543.2:p.Arg1342= |
| NM_000552.4:c.4024_4025delinsCG | NP_000543.2:p.Arg1342= |
| ENST00000261405.9:c.4024_4025delinsCG | ENSP00000261405.5:p.Arg1342= |
| ENST00000538635.5:n.421-25460_421-25459delinsCG |